ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.678C>A (p.His226Gln)

dbSNP: rs28516461
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000799032 SCV000938679 uncertain significance Fanconi anemia 2023-10-30 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 226 of the SLX4 protein (p.His226Gln). This variant is present in population databases (no rsID available, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. ClinVar contains an entry for this variant (Variation ID: 645019). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV003141791 SCV003823925 uncertain significance Fanconi anemia complementation group P 2019-09-04 criteria provided, single submitter clinical testing

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